V
Vincenzo Bonifati
Researcher at Erasmus University Rotterdam
Publications - 227
Citations - 19459
Vincenzo Bonifati is an academic researcher from Erasmus University Rotterdam. The author has contributed to research in topics: Parkinsonism & Parkinson's disease. The author has an hindex of 65, co-authored 209 publications receiving 17526 citations. Previous affiliations of Vincenzo Bonifati include Sapienza University of Rome.
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Journal ArticleDOI
Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism
Vincenzo Bonifati,Vincenzo Bonifati,Patrizia Rizzu,Marijke J. van Baren,Onno Schaap,Guido J. Breedveld,Elmar Krieger,Marieke C. J. Dekker,Ferdinando Squitieri,Pablo Ibanez,Marijke Joosse,Jeroen W.F. van Dongen,Nicola Vanacore,Nicola Vanacore,John C. van Swieten,Alexis Brice,Giuseppe Meco,Cornelia M. van Duijn,Ben A. Oostra,Peter Heutink +19 more
TL;DR: It is shown that DJ-1 mutations are associated with PARK7, a monogenic form of human parkinsonism, and these findings indicate that loss ofDJ-1 function leads to neurodegeneration.
Journal ArticleDOI
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
Daniel G. Healy,Mario Falchi,Sean S. O'Sullivan,Vincenzo Bonifati,Alexandra Durr,Susan B. Bressman,Alexis Brice,Jan O. Aasly,Cyrus P. Zabetian,Stefano Goldwurm,Joaquim J. Ferreira,Eduardo Tolosa,Denise M. Kay,Christine Klein,David R. Williams,Connie Marras,Anthony E. Lang,Zbigniew K. Wszolek,José Berciano,Anthony H.V. Schapira,Timothy Lynch,Kailash P. Bhatia,Thomas Gasser,Andrew J. Lees,Andrew J. Lees,Nicholas W. Wood +25 more
TL;DR: Mutations in LRRK2 are a clinically relevant cause of PD that merit testing in patients with hereditary PD and in subgroups of patients with PD, but this knowledge should be applied with caution in the diagnosis and counselling of patients.
Journal ArticleDOI
A common LRRK2 mutation in idiopathic Parkinson's disease
William P. Gilks,Patrick M. Abou-Sleiman,Sonia Gandhi,Shushant Jain,Andrew B. Singleton,Andrew J. Lees,Karen Shaw,Kailash P. Bhatia,Vincenzo Bonifati,Niall Quinn,John B. Lynch,Daniel G. Healy,Janice L. Holton,Tamas Revesz,Nicholas W. Wood +14 more
TL;DR: It is shown that a common single Mendelian mutation, 2877510 g-->A, which produces a glycine to serine aminoacid substitution at codon 2019 (Gly2019 ser), in idiopathic Parkinson's disease, and suggested that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson's Disease.
Journal ArticleDOI
Lewy pathology in Parkinson's disease consists of crowded organelles and lipid membranes.
Sarah H Shahmoradian,Sarah H Shahmoradian,Amanda J Lewis,Christel Genoud,Jürgen Hench,Tim Moors,Paula P Navarro,Daniel Castaño-Díez,Gabriel Schweighauser,Alexandra Graff-Meyer,Kenneth N. Goldie,Rosmarie Sütterlin,Evelien Huisman,Angela Ingrassia,Yvonne de Gier,Annemieke J.M. Rozemuller,Jing Wang,Anne De Paepe,Johannes Erny,Andreas Staempfli,Joerg Hoernschemeyer,Frederik Großerüschkamp,Daniel Niedieker,Samir F. El-Mashtoly,Marialuisa Quadri,Wilfred F. J. van IJcken,Vincenzo Bonifati,Klaus Gerwert,Bernd Bohrmann,Stephan Frank,Markus Britschgi,Henning Stahlberg,Wilma D.J. van de Berg,Matthias E. Lauer +33 more
TL;DR: Using three-dimensional correlative light and electron microscopy of Lewy bodies and Lewy neurites in postmortem brains of Parkinson’s disease patients, researchers show that the major constituents are membranes rather than proteinaceous filaments.
Journal ArticleDOI
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.
Alessio Di Fonzo,Alessio Di Fonzo,Christan F. Rohé,Joaquim J. Ferreira,Hsin F. Chien,Laura Vacca,Fabrizio Stocchi,Leonor Correia Guedes,Edito Fabrizio,Mario Manfredi,Nicola Vanacore,Stefano Goldwurm,Guido J. Breedveld,Cristina Sampaio,Giuseppe Meco,Egberto Reis Barbosa,Ben A. Oostra,Vincenzo Bonifati,Vincenzo Bonifati +18 more
TL;DR: Findings confirm the association of LRRK2 with neurodegeneration, and identify a common mutation associated with dominantly inherited Parkinson's disease.